The yield of chromosomal microarray testing for cases of abnormal fetal head circumference
| Autor: | Morad Khayat, Yael Pasternak, Rivka Sukenik Halevy, Sharon Zeligson, Shay Ben-Shachar, Amihood Singer, Lena Sagi-Dain, Michal Feingold-Zadok, Lior Greenbaum, Idit Maya |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
0301 basic medicine medicine.medical_specialty Microcephaly DNA Copy Number Variations Genetic counseling 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Pregnancy Humans Medicine Fetal head Retrospective Studies Fetus business.industry Obstetrics Medical record Macrocephaly Obstetrics and Gynecology Microarray Analysis medicine.disease Megalencephaly Cytogenetic Analysis Pediatrics Perinatology and Child Health Cohort Amniocentesis Female medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Perinatal Medicine. 48:553-558 |
| ISSN: | 1619-3997 0300-5577 2020-0048 |
| DOI: | 10.1515/jpm-2020-0048 |
| Popis: | Objectives Chromosomal microarray analysis (CMA) is the method of choice for genetic work-up in cases of fetal malformations. We assessed the detection rate of CMA in cases of abnormal fetal head circumference (HC). Methods The study cohort was based on 81 cases of amniocenteses performed throughout Israel for the indication of microcephaly (53) or macrocephaly (28), from January 2015 through December 2018. We retrieved data regarding the clinical background, parental HCs and work-up during the pregnancy from genetic counseling summaries and from patients’ medical records. Results There was only one likely pathogenic CMA result (1.89%): a 400-kb microdeletion at 16p13.3 detected in a case of isolated microcephaly. No pathogenic results were found in the macrocephaly group. Most fetuses with microcephaly were female (87.8%), while the majority with macrocephaly were males (86.4%). Conclusions The results imply that CMA analysis in pregnancies with microcephaly may carry a small yield compared to other indications. Regarding macrocephaly, our cohort was too small to draw conclusions. In light of the significant gender effect on the diagnosis of abnormal HC, standardization of fetal HC charts according to fetal gender may normalize cases that were categorized outside the normal range and may increase the yield of CMA for cases of abnormal HC. |
| Databáze: | OpenAIRE |
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